Update: New, if Belated, Gov't Interest in CFS Encourages Patients

New center in NINDS to focus on chronic fatigue

In February, the National Academy of Medicine published a report attempting to better define the condition known as chronic fatigue syndrome, also called myalgic encephalomyelitis; in September, we reported that advisers to the Department of Health and Human Services recommended increasing funding for research into the condition. The following is a look at what has happened since that story.

In 2011, Jennifer Brea, 33, a filmmaker and social scientist, was struck by dizzy spells so intense she couldn't leave her home. A year later, she was battling to write her own name, to speak, and even to walk. Brea, who was a PhD student at Harvard University when her illness began, said at times she felt like a dog, unable to process words.

"I had no verbal monologue inside my head," she told MedPage Today.

Before her symptoms began, Brea had been traveling in Africa and had caught malaria. After recovering from malaria she ran a fever that lasted over a week.

Nearly every physician she met at the university's student clinic suggested that she was either not seriously ill or that her illness was psychosomatic.

When Brea asked her primary care doctor if she might have chronic fatigue syndrome/myalgic encephalomyelitis (ME/CFS) he mentioned "a lot of overlap with depression."

Yet, a psychiatrist evaluated Brea and found nothing psychiatrically wrong.

Despite that evaluation, a neurologist -- after ruling out epilepsy and multiple sclerosis -- diagnosed her with conversion disorder. He said her symptoms stemmed from a distant trauma she had somehow forgotten.

The only physician who seemed to listen and believe Brea was a rheumatologist at Massachusetts General Hospital in Boston. He told her he didn't know what was wrong.

"It was the kindest and most helpful thing he could have told me," she said.

Ultimately, Brea received a diagnosis of ME/CFS. Between 800,00 and 2.5 million Americans are believed to have ME/CFS.

The disease lacks a clear case definition and pathology, which means patients like Brea are often misdiagnosed or not diagnosed at all.

There is no screening test for ME/CFS, no FDA-approved treatments, and no cure. However, the promise of increased funding for research and a new study, specifically designed to locate biomarkers of the disease, signal hope for patients and ME/CFS advocates.

Beyond its practical application, the report served as a long-awaited acknowledgement from an established scientific body stating what patients had known for decades: that ME/CFS is a debilitating, multisystemic, medical illness.

In July, Brian Vastag, a journalist and patient with ME/CFS, published an open letter to Francis Collins, director of the National Institutes of Health, titled, "I'm disabled. Can NIH spare a few dimes?" chronicling the agency's "abject neglect," of the disease.

In late October, the NIH announced it was moving ME/CFS research from the Office of Research on Women's Health to the National Institutes of Neurological Disorders and Stroke (NINDS).

The agency also shared its plan to conduct a study of ME/CFS patients at its own clinical center in Bethesda, Md. The study has not yet received approval from the institutional review board.

Vicky Holets Whittemore, PhD, an NINDS program director, told MedPage Today that the study would focus on patients who developed ME/CFS following an infection and who have been sick for less than 5 years. Avindra Nath, MD, the study's principal investigator and a senior investigator for NINDS, noted in an email that "the sample size, age limits and other parameters could all be changed by the review process."

Carol Head, MBA, president of the Los Angeles-based Solve ME/CFS Initiative, a patient-centered research organization said she's hopeful that this will mean more funding for ME/CFS.

Head spoke with Collins following his October announcement, and said he acknowledged that ME/CFS was underfunded. "I think he's genuine in his interest to make up for that," she said.

New Year, New Hope

Ronald Davis, PhD, director of the ME/CFS advisory board for the Open Medicine Foundation, a California healthcare nonprofit focused on neuro-immune diseases, is not waiting for the NIH spigot to open.

Davis, who is also a professor of biochemistry and genetics at Stanford University School of Medicine, saw two grant proposals rejected by the agency and then chose a different tack: private funding. OMF has collected $1.9 million in private donations this year. Davis said that technology companies in Silicon Valley have also volunteered to help in the analysis phase of his project, known as the Severely Ill Big Data study, for free or at a low cost.

Linda Tannenbaum, executive director of OMF, said that clinical teams -- including a doctor, a nurse, and a phlebotomist -- will begin gathering patient samples as early as January.

Tannenbaum's daughter has ME/CFS. Davis's son Whitney Dafoe, 31, is also a patient.

Dafoe fell sick three years ago. While his lab tests -- liver function, kidney function, heart function, cholesterol levels, and red blood cell count -- were all normal, when Davis tested his son's metabolites, some were "way off from normal."

Dafoe is now bed-bound. He cannot endure light, sound, or strong smells. He is tube-fed and can't tolerate a stranger's presence or manage a conversation.

Any "demand" on the brain such as trying to identify a stranger in his room, or assess whether that person is a threat, are tremendously taxing for Dafoe and can cause him to crash.

Davis cares for his son daily but has not spoken to him in over a year.

He has medical colleagues who know his son's story and have read the IOM's report but remain skeptical about ME/CFS. He believes biomarkers will end that debate.

Big Data, Tiny Clues

As part of the Severely Ill Big Data study, a clinician team will go house-to-house collecting samples of blood, urine, saliva, tears, stool, and possibly sweat, Davis said, from 20 of the sickest ME/CFS patients in the Palo Alto/Mountain View area of northern California.

Tannenbaum explained that samples had to be taken within 30 minutes of a testing laboratory to maintain their integrity.

Some call the study a "fishing expedition" and Davis doesn't argue. "Basically we are looking for almost all types of molecular markers that are reasonably sound to do."

This will include genome sequencing, as well as testing for microorganisms such as fungi, viruses, bacteria and parasites. Researchers will run dozens of tests covering the gut microbiome, the immune system, mitochondria, and different proteins, and will generate "billions of data points."

Davis said he will be careful not to get distracted by symptoms.

"There's got to be something ... that's triggered this disease and we're much more likely to cure it if we can go to the original cause."

He also doesn't expect to find a single biomarker, but several biomarkers of different types -- such as metabolites, RNA molecules, or proteins -- that together could serve as the biomarker.

The study is expected to last 9 to 12 months, though the analysis could take longer, Davis said. To encourage as much collaboration as possible, the OMF will publish its results online.

Tannenbaum, told MedPage Today the foundation plans to present its results to the NIH, "so, that they can in a very, very big way expand it."

Biomarkers could ultimately be used to screen for the disease and aid in treatment.

Davis is hopeful that his son won't have to wait for a new drug to be developed, but that an existing, FDA-approved therapy could be identified sooner with the help of biomarkers.

On Their Own

Brea is currently making a film about the unseen lives of patients with ME/CFS. She's frustrated that her disease robbed her of the career she planned and that society's neglect for the illness played a part.

"I know ballet dancers who can't dance. I know accountants who can't add. Doctors who can't be doctors. It doesn't matter what you used to do, you can't do it any more."

Through a combination of Valcyte (valganciclovir), dietary supplements, magnesium injections, a low-sugar diet, and other "gut-healing" therapies, Brea said most of her neurological symptoms have dissipated. However, she still struggles to walk long distances and uses a wheelchair outside her home.

Most of the treatments she discovered by combing through the medical literature and reading letters sent to her, because of her film. With ME/CFS, she said, "You have to figure out how to get better whether or not you have the help of medicine."

Brea's hopeful that with adequate public investment, scientists will see major progress in the next 5 to 10 years. She believes finding the reason for her condition might be relatively straight-forward.

But, she added, "[i]t's really hard to find an answer for something, when you're not looking."

Accessibility Statement

At MedPage Today, we are committed to ensuring that individuals with disabilities can access all of the content offered by MedPage Today through our website and other properties. If you are having trouble accessing www.medpagetoday.com, MedPageToday's mobile apps, please email legal@ziffdavis.com for assistance. Please put "ADA Inquiry" in the subject line of your email.